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Hannah Verdin

Showing results (31-40 of 36) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Journal of Clinical Immunology|July 12, 2018
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 DeficiencyJérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, et al.
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Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Journal of Clinical Immunology|July 12, 2018
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 DeficiencyJérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, et al.
Pageof 4